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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Hennekam syndrome
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Accession:DOID:0060366 term browser browse the term
Definition:A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients. (DO)
Synonyms:exact_synonym: Hennekam Lymphangiectasia Lymphedema Syndrome;   Lymphangiectasies and lymphedema Hennekam type;   generalized lymphatic dysplasia;   lymphedem-lymphangiectasia-intellectual disability syndrome;   lymphedema-lymphangiectasia-intellectual disability syndrome
 primary_id: MESH:C537255
 xref: GARD:3318;   MIM:PS235510;   ORDO:2136


show annotations for term's descendants           Sort by:
Hennekam syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccbe1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LYMPHATIC DYSPLASIA, GENERALIZED		 CTD
ClinVar		 PMID:19911200 PMID:19935664 PMID:25741868 PMID:25814692 PMID:28492532 More... NCBI chr18:59,579,851...59,823,977
Ensembl chr18:59,580,768...59,824,400 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707 		JBrowse link
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccbe1 collagen and calcium binding EGF domains 1 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19911200 PMID:19935664 More... NCBI chr18:59,579,851...59,823,977
Ensembl chr18:59,580,768...59,824,400 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 ClinVar PMID:25741868 NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707 		JBrowse link
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 2 OMIM
ClinVar		 PMID:2624276 PMID:22473091 PMID:24033266 PMID:24056717 PMID:24913602 More... NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707 		JBrowse link
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts3 ADAM metallopeptidase with thrombospondin type 1, motif 3 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 3 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28985353 PMID:30450763 NCBI chr14:18,231,128...18,437,771
Ensembl chr14:18,231,165...18,435,556 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    syndrome 11181
      Hennekam syndrome 3
        Hennekam Lymphangiectasia-Lymphedema Syndrome 1 2
        Hennekam Lymphangiectasia-Lymphedema Syndrome 2 1
        Hennekam Lymphangiectasia-Lymphedema Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 19047
    disease of anatomical entity 18381
      Immune & Inflammatory Diseases 5742
        immune system disease 4931
          lymphatic system disease 1749
            Lymphangiectasis 4
              Intestinal Lymphangiectasis 3
                Hennekam syndrome 3
                  Hennekam Lymphangiectasia-Lymphedema Syndrome 1 2
                  Hennekam Lymphangiectasia-Lymphedema Syndrome 2 1
                  Hennekam Lymphangiectasia-Lymphedema Syndrome 3 1
paths to the root